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A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor
- Source :
- Epilepsy & Behavior Reports, Vol 15, Iss, Pp 100405-(2021), Epilepsy & Behavior Reports
- Publication Year :
- 2021
- Publisher :
- Elsevier, 2021.
-
Abstract
- Highlights • Generalized epilepsy with tremor phenotype ss a clinical marker of 6q22.1 microdeletion. • Deep brain stimulation may be applicable choince for intractable myoclonic tremor. • Over activation of basal ganglia may be related to this patient's symptoms.<br />We report a patient with a 6q22.1 deletion, who presented with a rare syndrome of generalized epilepsy, myoclonic tremor, and intellectual disability. There was no clinical progression after follow-up for more than 10 years. Our report presents the genetic basis for a phenotype involving a non-progressive generalized epilepsy with tremor. The efficacy of valproic acid for seizure control and the partial efficacy of deep brain stimulation with propranolol for myoclonic tremor is detailed.
- Subjects :
- Neurophysiology and neuropsychology
Pediatrics
medicine.medical_specialty
Deep brain stimulation
medicine.medical_treatment
DBS
Propranolol
Myoclonic tremor
Article
Behavioral Neuroscience
Intellectual disability
medicine
Seizure control
Generalized epilepsy
RC346-429
Early onset
Valproic Acid
business.industry
QP351-495
medicine.disease
Phenotype
nervous system diseases
Neurology
NUS1
Neurology (clinical)
Neurology. Diseases of the nervous system
business
medicine.drug
6q22.1 deletion
Subjects
Details
- Language :
- English
- ISSN :
- 25899864
- Volume :
- 15
- Database :
- OpenAIRE
- Journal :
- Epilepsy & Behavior Reports
- Accession number :
- edsair.doi.dedup.....715039157e71c48d28c13061296471d2